Astrin, Kenneth H: search on Z-Library

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1

[Part 1: Biological Sciences] || Assignment of Human α1-antitrypsin to Chromosome 14 by Somatic Cell Hybrid Analysis

Gretchen J. Darlington, Kenneth H. Astrin, Susan P. Muirhead, Robert J. Desnick and Moyra Smith

Journal:

Proceedings of the National Academy of Sciences

Year:

1982

Language:

english

File:

PDF, 995 KB

english, 1982

2

Human δ-aminolevulinate synthase: Assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome

Bishop, David F., Henderson, Ann S., Astrin, Kenneth H.

Journal:

Year:

1990

Language:

english

File:

PDF, 1.26 MB

english, 1990

3

Two Brothers With Mild Congenital Erythropoietic Porphyria Due to a Novel Genotype

Berry, Ali A., Desnick, Robert J., Astrin, Kenneth H., Shabbeer, Junard, Lucky, Anne W., Lim, Henry W.

Journal:

Archives of Dermatology

Year:

2005

Language:

english

File:

PDF, 165 KB

english, 2005

4

Molecular basis of congenital erythropoietic porphyria: Mutations in the human uroporphyrinogen III synthase gene

Weiming Xu, Kenneth H. Astrin, Robert J. Desnick

Journal:

Year:

1996

Language:

english

File:

PDF, 541 KB

english, 1996

5

Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and α-glactosidase A

Kornreich, Ruth, Astrin, Kenneth H., Desnick, Robert J.

Journal:

Year:

1992

Language:

english

File:

PDF, 1.48 MB

english, 1992

6

Fabry Disease:

Glass, Ronald B. J, Astrin, Kenneth H, Norton, Karen I, Parsons, Rosaleen, Eng, Christine M, Banikazemi, Maryam, Desnick, Robert J

Journal:

Journal of Computer Assisted Tomography

Year:

2004

Language:

english

File:

PDF, 507 KB

english, 2004

7

Identification and Expression of Mutations in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria (AIP)

Solis, Constanza, Lopez-Echaniz, Idoia, Sefarty-Graneda, David, Astrin, Kenneth H., Desnick, Robert J.

Journal:

Molecular Medicine

Year:

1999

Language:

english

File:

PDF, 1.39 MB

english, 1999

8

Molecular basis of acute intermittent porphyria: Mutations and polymorphisms in the human hydroxymethylbilane synthase gene

Kenneth H. Astrin, Robert J. Desnick

Journal:

Year:

1994

Language:

english

File:

PDF, 900 KB

english, 1994

9

Modulation of the human T cell proliferative response to mitogens and alloantigens by hydrogen peroxide

Kornreich, Ruth, Astrin, Kenneth H., Desnick, Robert J.

Journal:

Human Immunology

Year:

1985

Language:

english

File:

PDF, 80 KB

english, 1985

10

CLINICAL SOCIETY OF LONDON. FRIDAY, MARCH 25TH.

Kornreich, Ruth, Astrin, Kenneth H., Desnick, Robert J.

Journal:

Year:

1870

Language:

english

File:

PDF, 390 KB

english, 1870

11

Acute Intermittent Porphyria

Solis, Constanza, Martinez-Bermejo, Antonio, Naidich, Thomas P., Kaufmann, Walter E., Astrin, Kenneth H., Bishop, David F., Desnick, Robert J.

Journal:

Archives of Neurology

Year:

2004

Language:

english

File:

PDF, 155 KB

english, 2004

12

Acute intermittent porphyria: A single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide

Grace Y. Lee, Kenneth H. Astrin, Robert J. Desnick

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 518 KB

english, 1995

13

Fabry Disease: Molecular Diagnosis of Hemizygotes and Heterozygotes

Desnick, Robert J., Bernstein, Harold S., Astrin, Kenneth H., Bishop, David F.

Journal:

Year:

1987

File:

PDF, 1.20 MB

1987

14

Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program

Yoo, Han Wook, Astrin, Kenneth H., Desnick, Robert J.

Journal:

Journal of Korean Medical Science

Year:

1993

File:

PDF, 18.27 MB

1993

15

Cholesteryl ester storage disease: Pathologic changes in an affected fetus

Panna K. Desai, Kenneth H. Astrin, Swan N. Thung, Ronald E. Gordon, M. Priscilla Short, Paul M. Coates, Robert J. Desnick, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 1.00 MB

english, 1987

16

Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2→q26.3

Kenneth H. Astrin, Cecilia A. Warner, Han-Wook Yoo, Paul J. Goodfellow, Shih-Feng Tsai, Robert J. Desnick

Journal:

Year:

1991

Language:

english

File:

PDF, 540 KB

english, 1991

17

Human δ-aminolevulinate dehydratase: chromosomal localization to 9q34 by in situ hybridization

Venkateswara R. Potluri, Kenneth H. Astrin, James G. Wetmur, David F. Bishop, Robert J. Desnick

Journal:

Year:

1987

Language:

english

File:

PDF, 550 KB

english, 1987

18

Molecular Genetics of Congenital Erythropoietic Porphyria

Desnick, Robert, Glass, Ian, Xu, Weiming, Solis, Constanza, Astrin, Kenneth

Journal:

Seminars in Liver Disease

Year:

1998

Language:

english

File:

PDF, 772 KB

english, 1998

19

Congenital erythropoietic porphyria: advances in pathogenesis and treatment

Robert J. Dsnick, Kenneth H. Astrin

Journal:

British Journal of Haematology

Year:

2002

Language:

english

File:

PDF, 623 KB

english, 2002

20

Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene

Ramdall, Risha B, Cunha, Luis, Astrin, Kenneth H, Katz, David R, Anderson, Karl E, Glucksman, Marc, Bottomley, Sylvia S, Desnick, Robert J

Journal:

Genetics in Medicine

Year:

2000

Language:

english

File:

PDF, 1.10 MB

english, 2000

21

Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene

Amr A. Shady, Brandon R. Colby, Luis F. Cunha, Kenneth H. Astrin, David F. Bishop, Robert J. Desnick

Journal:

British Journal of Haematology

Year:

2002

Language:

english

File:

PDF, 192 KB

english, 2002

22

Mutants of purine metabolism in cultured mouse and hamster cells

Kenneth H. Astrin, C.Thomas Caskey

Journal:

Archives of Biochemistry and Biophysics

Year:

1976

Language:

english

File:

PDF, 1.30 MB

english, 1976

23

Familial Porphyria Cutanea Tarda: Characterization of Seven Novel Uroporphyrinogen Decarboxylase Mutations and Frequency of Common Hemochromatosis Alleles

Manuel Mendez, Lonnie Sorkin, Maria Victoria Rossetti, Kenneth H. Astrin, Alcira M. del C. Batlle, Victoria E. Parera, Gerardo Aizencang, Robert J. Desnick

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 778 KB

english, 1998

24

[Part 1: Biological Sciences] || Regional Assignment of the Structural Gene for Human α -L-iduronidase

Edward H. Schuchman, Kenneth H. Astrin, Pertti Aula and Robert J. Desnick

Journal:

Proceedings of the National Academy of Sciences

Year:

1984

Language:

english

File:

PDF, 1.53 MB

english, 1984

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